TTN[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic[p - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 13291571.	NM_001267550.2(TTN):c.46089_46090del (p.Cys15363fs) GRCh37: Chr2:179485158-179485159 GRCh38: Chr2:178620431-178620432	TTN	C12795fs, C13722fs, C15363fs, C6298fs, C6423fs, C6490fs	Cardiomyopathy	Likely pathogenic (Apr 16, 2020)	criteria provided, single submitter
Select item 469972.	NM_001267550.2(TTN):c.46069_46070del (p.Met15357fs) GRCh37: Chr2:179485178-179485179 GRCh38: Chr2:178620451-178620452	TTN	M6484fs, M15357fs, M6292fs, M13716fs, M12789fs, M6417fs	Primary dilated cardiomyopathy	Likely pathogenic (Feb 20, 2013)	criteria provided, single submitter
Select item 2228673.	NM_001267550.2(TTN):c.45896-2A>G GRCh37: Chr2:179485354 GRCh38: Chr2:178620627	TTN		Primary dilated cardiomyopathy	Likely pathogenic (Aug 3, 2015)	criteria provided, single submitter
Select item 1789844.	NM_001267550.2(TTN):c.45895+1G>A GRCh37: Chr2:179485441 GRCh38: Chr2:178620714	TTN		Primary dilated cardiomyopathy	Likely pathogenic (Jan 28, 2014)	criteria provided, single submitter
Select item 2232765.	NM_001267550.2(TTN):c.45812T>G (p.Leu15271Ter) GRCh37: Chr2:179485525 GRCh38: Chr2:178620798	TTN	L15271, L6331, L6398, L6206, L12703, L13630	Primary dilated cardiomyopathy	Likely pathogenic (Oct 8, 2014)	criteria provided, single submitter
Select item 6266836.	NM_001267550.2(TTN):c.45758_45764del (p.Tyr15253fs) GRCh37: Chr2:179485573-179485579 GRCh38: Chr2:178620846-178620852	TTN	Y15253fs, Y6380fs, Y12685fs, Y6313fs, Y13612fs, Y6188fs	Cardiomyopathy	Likely pathogenic (Oct 30, 2017)	criteria provided, single submitter
Select item 2246497.	NM_001267550.2(TTN):c.45756dup (p.Tyr15253fs) GRCh37: Chr2:179485580-179485581 GRCh38: Chr2:178620853-178620854	TTN	Y15253fs, Y6380fs, Y12685fs, Y13612fs, Y6188fs, Y6313fs	Primary dilated cardiomyopathy	Likely pathogenic (Oct 8, 2014)	criteria provided, single submitter
Select item 17811778.	NM_001267550.2(TTN):c.45617-1G>C GRCh37: Chr2:179485721 GRCh38: Chr2:178620994	TTN		Cardiovascular phenotype	Likely pathogenic (Mar 9, 2021)	criteria provided, single submitter
Select item 3729069.	NM_001267550.2(TTN):c.44663del (p.Asn14888fs) GRCh37: Chr2:179489344 GRCh38: Chr2:178624617	TTN	N13247fs, N14888fs, N5823fs, N6015fs, N12320fs, N5948fs	not provided	Likely pathogenic (Feb 11, 2016)	criteria provided, single submitter
Select item 97803610.	NM_001267550.2(TTN):c.44516del (p.Asp14839fs) GRCh37: Chr2:179490032 GRCh38: Chr2:178625305	TTN	D12271fs, D13198fs, D14839fs, D5774fs, D5899fs, D5966fs	Congenital titinopathy	Likely pathogenic (Apr 24, 2020)	criteria provided, single submitter
Select item 81770911.	NM_001267550.2(TTN):c.44465_44466del (p.Leu14822fs) GRCh37: Chr2:179490082-179490083 GRCh38: Chr2:178625355-178625356	TTN	L13181fs, L5882fs, L5949fs, L12254fs, L14822fs, L5757fs	not provided	Likely pathogenic (Jun 29, 2018)	criteria provided, single submitter
Select item 19113912.	NM_001267550.2(TTN):c.44269C>G (p.Leu14757Val) GRCh37: Chr2:179494980 GRCh38: Chr2:178630253	TTN	L14757V, L13116V, L5817V, L5692V, L5884V, L12189V	not provided	Likely pathogenic	no assertion criteria provided
Select item 169498913.	NM_001267550.2(TTN):c.44249del (p.Asn14750fs) GRCh37: Chr2:179495000 GRCh38: Chr2:178630273	TTN	N12182fs, N13109fs, N14750fs, N5685fs, N5810fs, N5877fs	not provided	Likely pathogenic (Jun 1, 2022)	criteria provided, single submitter
Select item 177824414.	NM_001267550.2(TTN):c.44170_44173del (p.Glu14724fs) GRCh37: Chr2:179495076-179495079 GRCh38: Chr2:178630349-178630352	TTN	E13083fs, E5659fs, E5851fs, E14724fs, E12156fs, E5784fs	Cardiovascular phenotype	Likely pathogenic (Nov 24, 2021)	criteria provided, single submitter
Select item 177821015.	NM_001267550.2(TTN):c.44149del (p.Thr14717fs) GRCh37: Chr2:179495536 GRCh38: Chr2:178630809	TTN	T14717fs, T5777fs, T5652fs, T12149fs, T13076fs, T5844fs	Cardiovascular phenotype	Likely pathogenic (Jun 6, 2022)	criteria provided, single submitter
Select item 177819116.	NM_001267550.2(TTN):c.44143del (p.Leu14715fs) GRCh37: Chr2:179495542 GRCh38: Chr2:178630815	TTN	L13074fs, L5842fs, L14715fs, L5775fs, L12147fs, L5650fs	Cardiovascular phenotype	Likely pathogenic (Jun 6, 2022)	criteria provided, single submitter
Select item 128434417.	NM_001267550.2(TTN):c.44077del (p.Arg14693fs) GRCh37: Chr2:179495608 GRCh38: Chr2:178630881	TTN	R12125fs, R13052fs, R14693fs, R5628fs, R5753fs, R5820fs	not provided	Likely pathogenic	no assertion criteria provided
Select item 177797918.	NM_001267550.2(TTN):c.44046_44047del (p.His14682fs) GRCh37: Chr2:179495638-179495639 GRCh38: Chr2:178630911-178630912	TTN	H12114fs, H14682fs, H5617fs, H5742fs, H13041fs, H5809fs	Cardiovascular phenotype	Likely pathogenic (Nov 12, 2019)	criteria provided, single submitter
Select item 169600919.	NM_001267550.2(TTN):c.43960C>T (p.Gln14654Ter) GRCh37: Chr2:179495815 GRCh38: Chr2:178631088	TTN	Q12086, Q13013, Q14654, Q5589, Q5714, Q5781	Primary familial dilated cardiomyopathy	Likely pathogenic (May 24, 2022)	criteria provided, single submitter
Select item 177750120.	NM_001267550.2(TTN):c.43816C>T (p.Gln14606Ter) GRCh37: Chr2:179495959 GRCh38: Chr2:178631232	TTN	Q12038, Q12965, Q14606, Q5541, Q5733, Q5666	Cardiovascular phenotype	Likely pathogenic (May 29, 2022)	criteria provided, single submitter
Select item 22327521.	NM_001267550.2(TTN):c.43792del (p.Gly14597_Val14598insTer) GRCh37: Chr2:179495983 GRCh38: Chr2:178631256	TTN		Primary dilated cardiomyopathy	Likely pathogenic (Oct 8, 2014)	criteria provided, single submitter
Select item 69169822.	NM_001267550.2(TTN):c.43604_43607dup (p.His14537fs) GRCh37: Chr2:179497013-179497014 GRCh38: Chr2:178632286-178632287	TTN	H14537fs, H5472fs, H5664fs, H5597fs, H12896fs, H11969fs	Primary dilated cardiomyopathy	Likely pathogenic (Jul 6, 2017)	criteria provided, single submitter
Select item 121339023.	NM_001267550.2(TTN):c.43576C>T (p.Arg14526Ter) GRCh37: Chr2:179497045 GRCh38: Chr2:178632318	TTN	R11958, R12885, R14526, R5461, R5586, R5653	not provided	Likely pathogenic (Jan 29, 2021)	criteria provided, single submitter
Select item 50396724.	NM_001267550.2(TTN):c.43370del (p.Lys14457fs) GRCh37: Chr2:179497363 GRCh38: Chr2:178632636	TTN	K14457fs, K5392fs, K5584fs, K5517fs, K11889fs, K12816fs	not provided	Likely pathogenic (May 12, 2021)	criteria provided, single submitter
Select item 132915025.	NM_001267550.2(TTN):c.43326_43327del (p.Gly14443fs) GRCh37: Chr2:179497406-179497407 GRCh38: Chr2:178632679-178632680	TTN	G11875fs, G12802fs, G14443fs, G5378fs, G5503fs, G5570fs	Cardiomyopathy	Likely pathogenic (Mar 29, 2021)	criteria provided, single submitter
Select item 50512426.	NM_001267550.2(TTN):c.42968dup (p.Pro14324fs) GRCh37: Chr2:179498031-179498032 GRCh38: Chr2:178633304-178633305	TTN	P12683fs, P14324fs, P5259fs, P5451fs, P5384fs, P11756fs	Primary dilated cardiomyopathy	Likely pathogenic (Jun 10, 2016)	criteria provided, single submitter
Select item 26581827.	NM_001267550.2(TTN):c.42909_42910del (p.Cys14303fs) GRCh37: Chr2:179498176-179498177 GRCh38: Chr2:178633449-178633450	TTN	C12662fs, C5363fs, C14303fs, C5238fs, C5430fs, C11735fs	Dilated cardiomyopathy 1S	Likely pathogenic (May 1, 2016)	no assertion criteria provided
Select item 177526728.	NM_001267550.2(TTN):c.42807_42819dup (p.Lys14274fs) GRCh37: Chr2:179498266-179498267 GRCh38: Chr2:178633539-178633540	TTN	K5209fs, K11706fs, K5334fs, K14274fs, K12633fs, K5401fs	Cardiovascular phenotype	Likely pathogenic (Sep 8, 2020)	criteria provided, single submitter
Select item 177520429.	NM_001267550.2(TTN):c.42786del (p.Trp14262fs) GRCh37: Chr2:179498300 GRCh38: Chr2:178633573	TTN	W12621fs, W5389fs, W14262fs, W5197fs, W11694fs, W5322fs	Cardiovascular phenotype	Likely pathogenic (Aug 18, 2020)	criteria provided, single submitter
Select item 177485330.	NM_001267550.2(TTN):c.42614_42635delinsCCTTCAGGGGCACAGCAAAGTCAAGG (p.Leu14205fs) GRCh37: Chr2:179498591-179498612 GRCh38: Chr2:178633864-178633885	TTN	L5265fs, L5140fs, L12564fs, L5332fs, L11637fs, L14205fs	Cardiovascular phenotype	Likely pathogenic (May 18, 2020)	criteria provided, single submitter
Select item 21246831.	NM_001267550.2(TTN):c.42486_42489del (p.Cys14163fs) GRCh37: Chr2:179498737-179498740 GRCh38: Chr2:178634010-178634013	TTN	C14163fs, C11595fs, C5098fs, C5223fs, C12522fs, C5290fs	Cardiovascular phenotype, Cardiomyopathy, Myopathy	Pathogenic/Likely pathogenic (May 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 24242232.	NM_001267550.1(TTN):c.42315_42318del GRCh37: Chr2:179499190-179499193 GRCh38: Chr2:178634463-178634466	TTN	K5040fs, K11537fs, K5232fs, K12464fs, K14105fs, K5165fs	Primary familial dilated cardiomyopathy	Likely pathogenic	criteria provided, single submitter
Select item 177386733.	NM_001267550.2(TTN):c.42154del (p.Ile14052fs) GRCh37: Chr2:179499354 GRCh38: Chr2:178634627	TTN	I14052fs, I5179fs, I11484fs, I12411fs, I4987fs, I5112fs	Cardiovascular phenotype	Likely pathogenic (Jan 9, 2020)	criteria provided, single submitter
Select item 22336734.	NM_001267550.2(TTN):c.41835T>G (p.Tyr13945Ter) GRCh37: Chr2:179500216 GRCh38: Chr2:178635489	TTN	Y13945, Y11377, Y12304, Y5072, Y4880, Y5005	Primary dilated cardiomyopathy	Likely pathogenic (Oct 8, 2014)	criteria provided, single submitter
Select item 101235635.	NM_001267550.2(TTN):c.41608+1G>T GRCh37: Chr2:179500689 GRCh38: Chr2:178635962	TTN		Dilated cardiomyopathy 1G	Pathogenic	no assertion criteria provided
Select item 167919536.	NM_001267550.2(TTN):c.41467C>G (p.Pro13823Ala) GRCh37: Chr2:179500831 GRCh38: Chr2:178636104	TTN	P11255A, P12182A, P13823A, P4758A, P4883A, P4950A	Tip-toe gait	Likely pathogenic	no assertion criteria provided
Select item 22327337.	NM_001267550.2(TTN):c.41447del (p.Gly13816fs) GRCh37: Chr2:179500851 GRCh38: Chr2:178636124	TTN	G12175fs, G4751fs, G13816fs, G4876fs, G11248fs, G4943fs	Primary dilated cardiomyopathy	Likely pathogenic (Oct 8, 2014)	criteria provided, single submitter
Select item 63680138.	NM_001267550.2(TTN):c.41383G>T (p.Gly13795Ter) GRCh37: Chr2:179500915 GRCh38: Chr2:178636188	TTN	G13795, G4730, G4855, G4922, G11227, G12154	not provided	Likely pathogenic (Sep 27, 2018)	criteria provided, single submitter
Select item 177214939.	NM_001267550.2(TTN):c.41367dup (p.Val13790fs) GRCh37: Chr2:179500930-179500931 GRCh38: Chr2:178636203-178636204	TTN	V12149fs, V4725fs, V13790fs, V4850fs, V11222fs, V4917fs	Cardiovascular phenotype	Likely pathogenic (Jun 6, 2019)	criteria provided, single submitter
Select item 177156740.	NM_001267550.2(TTN):c.41120_41123del (p.Glu13707fs) GRCh37: Chr2:179501331-179501334 GRCh38: Chr2:178636604-178636607	TTN	E4642fs, E11139fs, E12066fs, E4767fs, E4834fs, E13707fs	Cardiovascular phenotype	Likely pathogenic (Feb 16, 2022)	criteria provided, single submitter
Select item 101234841.	NM_001267550.2(TTN):c.40688_40689insT (p.Arg13565fs) GRCh37: Chr2:179505302-179505303 GRCh38: Chr2:178640575-178640576	TTN	R10997fs, R11924fs, R13565fs, R4500fs, R4625fs, R4692fs	Dilated cardiomyopathy 1G	Likely pathogenic	no assertion criteria provided
Select item 243191542.	NM_001267550.2(TTN):c.40663G>T (p.Glu13555Ter) GRCh37: Chr2:179505328 GRCh38: Chr2:178640601	TTN	E10987, E11914, E13555, E4490, E4615, E4682	Familial cancer of breast	Likely pathogenic (Apr 20, 2022)	criteria provided, single submitter
Select item 119946643.	NM_001267550.2(TTN):c.40634-1G>T GRCh37: Chr2:179505358 GRCh38: Chr2:178640631	TTN		not provided	Likely pathogenic (Jun 10, 2020)	criteria provided, single submitter
Select item 44642044.	NM_001267550.2(TTN):c.40626dup (p.Pro13543fs) GRCh37: Chr2:179505974-179505975 GRCh38: Chr2:178641247-178641248	TTN	P4670fs, P13543fs, P4478fs, P10975fs, P11902fs, P4603fs	Dilated cardiomyopathy 1G	Likely pathogenic (Sep 20, 2016)	criteria provided, single submitter
Select item 52047845.	NM_001267550.2(TTN):c.40621A>T (p.Lys13541Ter) GRCh37: Chr2:179505980 GRCh38: Chr2:178641253	TTN	K13541, K10973, K4601, K4476, K11900, K4668	not provided	Likely pathogenic (Nov 7, 2016)	criteria provided, single submitter
Select item 97876246.	NM_001267550.2(TTN):c.40608del (p.Lys13536fs) GRCh37: Chr2:179505993 GRCh38: Chr2:178641266	TTN	K10968fs, K11895fs, K13536fs, K4471fs, K4596fs, K4663fs	Primary dilated cardiomyopathy	Likely pathogenic	criteria provided, single submitter
Select item 128454547.	NM_001267550.2(TTN):c.40603A>T (p.Lys13535Ter) GRCh37: Chr2:179505998 GRCh38: Chr2:178641271	TTN	K10967, K11894, K13535, K4470, K4595, K4662	not provided	Likely pathogenic	no assertion criteria provided
Select item 91574348.	NM_001267550.2(TTN):c.40537_40540del (p.Glu13513fs) GRCh37: Chr2:179506982-179506985 GRCh38: Chr2:178642255-178642258	TTN	E4573fs, E10945fs, E13513fs, E11872fs, E4640fs, E4448fs	Cardiomyopathy	Likely pathogenic (Nov 24, 2017)	criteria provided, single submitter
Select item 117740849.	NM_001267550.2(TTN):c.40238dup (p.Tyr13414fs) GRCh37: Chr2:179511270-179511271 GRCh38: Chr2:178646543-178646544	TTN	Y13414fs	Early-onset myopathy with fatal cardiomyopathy	Pathogenic (Jan 4, 2021)	criteria provided, single submitter
Select item 98738250.	NM_001267550.2(TTN):c.39974-11T>G GRCh37: Chr2:179514069 GRCh38: Chr2:178649342	TTN		Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy, myofibrillar, 9, with early respiratory failure, Dilated cardiomyopathy 1G, Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy, Hypertrophic cardiomyopathy 9, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G, not provided	Pathogenic/Likely pathogenic (Mar 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169540951.	NM_001267550.2(TTN):c.39109G>T (p.Glu13037Ter) GRCh37: Chr2:179517203 GRCh38: Chr2:178652476	TTN	E10603, E11530, E13037*	Autosomal recessive limb-girdle muscular dystrophy type 2J	Pathogenic (Sep 8, 2022)	no assertion criteria provided
Select item 169540552.	NM_001267550.2(TTN):c.38876-2A>C GRCh37: Chr2:179517660 GRCh38: Chr2:178652933	TTN		not provided	Likely pathogenic (Jul 5, 2022)	criteria provided, single submitter
Select item 98635553.	NM_001267550.2(TTN):c.38767A>T (p.Lys12923Ter) GRCh37: Chr2:179517989 GRCh38: Chr2:178653262	TTN	K12923*	Early-onset myopathy with fatal cardiomyopathy	Likely pathogenic (May 3, 2019)	criteria provided, single submitter
Select item 61758654.	NM_001267550.2(TTN):c.38737G>T (p.Glu12913Ter) GRCh37: Chr2:179518019 GRCh38: Chr2:178653292	TTN	E12913*	Autosomal recessive limb-girdle muscular dystrophy type 2J, TTN-Related Disorders, not provided	Pathogenic/Likely pathogenic (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22612655.	NM_001267550.2(TTN):c.38661_38665del (p.Lys12887fs) GRCh37: Chr2:179518196-179518200 GRCh38: Chr2:178653469-178653473	TTN	K12887fs	CAP-congenital myopathy with arthrogryposis multiplex congenita without heart involvement	Likely pathogenic	no assertion criteria provided
Select item 133949356.	NM_001267550.2(TTN):c.38409del (p.Glu12804fs) GRCh37: Chr2:179518794 GRCh38: Chr2:178654067	TTN	E12804fs	TTN-Related Disorders	Likely pathogenic (Feb 5, 2022)	criteria provided, single submitter
Select item 244201757.	NM_001267550.2(TTN):c.38182A>T (p.Lys12728Ter) GRCh37: Chr2:179519496 GRCh38: Chr2:178654769	TTN	K12728*	Dilated cardiomyopathy 1G	Likely pathogenic (Nov 23, 2021)	criteria provided, single submitter
Select item 48935858.	NM_001267550.2(TTN):c.37906A>T (p.Lys12636Ter) GRCh37: Chr2:179522462 GRCh38: Chr2:178657735	TTN	K12636*	not provided	Pathogenic (May 20, 2022)	criteria provided, single submitter
Select item 87089159.	NM_001267550.2(TTN):c.37135C>T (p.Gln12379Ter) GRCh37: Chr2:179526741 GRCh38: Chr2:178662014	TTN	Q12379*	not provided	Pathogenic (Jun 1, 2017)	criteria provided, single submitter
Select item 80902460.	NM_001267550.2(TTN):c.35876-2A>G GRCh37: Chr2:179530520 GRCh38: Chr2:178665793	TTN		not provided	Likely pathogenic (May 1, 2019)	criteria provided, single submitter
Select item 129884761.	NM_001267550.2(TTN):c.35248del (p.Ile11750fs) GRCh37: Chr2:179535877 GRCh38: Chr2:178671150	TTN	I10449fs, I11376fs, I11750fs	not provided	Likely pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 81397662.	NM_001267550.2(TTN):c.35041G>T (p.Glu11681Ter) GRCh37: Chr2:179536884 GRCh38: Chr2:178672157	TTN	E10380, E11681, E11307*	Autosomal recessive limb-girdle muscular dystrophy type 2J	Pathogenic (Dec 3, 2018)	criteria provided, single submitter
Select item 52293063.	NM_001267550.2(TTN):c.34922del (p.Pro11641fs) GRCh37: Chr2:179537142 GRCh38: Chr2:178672415	TTN	P10340fs, P11641fs, P11267fs	Early-onset myopathy with fatal cardiomyopathy	Pathogenic (May 3, 2020)	criteria provided, single submitter
Select item 101343664.	NM_001267550.2(TTN):c.34407del (p.Lys11470fs) GRCh37: Chr2:179540694 GRCh38: Chr2:178675967	TTN	K10197fs, K11124fs, K11470fs	not provided	Likely pathogenic (Sep 1, 2020)	criteria provided, single submitter
Select item 167813865.	NM_001267550.2(TTN):c.34277del (p.Pro11426fs) GRCh37: Chr2:179542362 GRCh38: Chr2:178677635	TTN	P10182fs, P11109fs, P11426fs	not provided	Likely pathogenic (Nov 19, 2021)	criteria provided, single submitter
Select item 46703866.	NM_001267550.2(TTN):c.34253_34277del (p.Leu11418fs) GRCh37: Chr2:179542362-179542386 GRCh38: Chr2:178677635-178677659	TTN	L10174fs, L11101fs, L11418fs	Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely pathogenic (Sep 19, 2022)	criteria provided, single submitter
Select item 180750667.	NM_001267550.2(TTN):c.33535del (p.Glu11179fs) GRCh37: Chr2:179544666 GRCh38: Chr2:178679939	TTN	E10862fs, E11179fs, E9935fs	not provided	Likely pathogenic (Mar 16, 2022)	criteria provided, single submitter
Select item 170140068.	NM_001267550.2(TTN):c.33229A>T (p.Lys11077Ter) GRCh37: Chr2:179546121 GRCh38: Chr2:178681394	TTN	K10760, K11077, K9833*	not provided	Likely pathogenic (Jul 1, 2022)	criteria provided, single submitter
Select item 167811169.	NM_001267550.2(TTN):c.32826del (p.Val10943fs) GRCh37: Chr2:179547999 GRCh38: Chr2:178683272	TTN	V10626fs, V10943fs, V9699fs	not provided	Likely pathogenic (Sep 22, 2021)	criteria provided, single submitter
Select item 167813770.	NM_001267550.2(TTN):c.32665C>T (p.Gln10889Ter) GRCh37: Chr2:179549114 GRCh38: Chr2:178684387	TTN	Q10572, Q10889, Q9645*	not provided	Likely pathogenic (Nov 20, 2021)	criteria provided, single submitter
Select item 117598071.	NM_001267550.2(TTN):c.32662del (p.Thr10888fs) GRCh37: Chr2:179549117 GRCh38: Chr2:178684390	TTN	T10571fs, T10888fs, T9644fs	not provided	Pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 19114072.	NM_001267550.2(TTN):c.32470+3A>G GRCh37: Chr2:179549977 GRCh38: Chr2:178685250	TTN		not provided	Likely pathogenic	no assertion criteria provided
Select item 170192773.	NM_001267550.2(TTN):c.32452G>T (p.Glu10818Ter) GRCh37: Chr2:179549998 GRCh38: Chr2:178685271	TTN	E10501, E10818, E9574*	Desmin-related myofibrillar myopathy	Likely pathogenic (Feb 1, 2013)	criteria provided, single submitter
Select item 87062874.	NM_001267550.2(TTN):c.32312-1G>A GRCh37: Chr2:179550326 GRCh38: Chr2:178685599	TTN		Centronuclear myopathy	Pathogenic (Apr 11, 2020)	criteria provided, single submitter
Select item 134151475.	NM_001267550.2(TTN):c.32240G>A (p.Gly10747Asp) GRCh37: Chr2:179552909 GRCh38: Chr2:178688182	TTN	G10430D, G10747D, G9503D	Tip-toe gait	Likely pathogenic (Feb 11, 2022)	criteria provided, single submitter
Select item 167810976.	NM_001267550.2(TTN):c.31879_31888delinsCTC (p.Glu10627fs) GRCh37: Chr2:179554281-179554290 GRCh38: Chr2:178689554-178689563	TTN	E10310fs, E10627fs, E9383fs	not provided	Likely pathogenic (Sep 18, 2021)	criteria provided, single submitter
Select item 98738377.	NM_001267550.2(TTN):c.31034_31035del (p.Asp10344_Tyr10345insTer) GRCh37: Chr2:179560764-179560765 GRCh38: Chr2:178696037-178696038	TTN		not provided	Pathogenic (Oct 23, 2020)	criteria provided, single submitter
Select item 17867278.	NM_001267550.2(TTN):c.30484_30493del (p.Thr10162fs) GRCh37: Chr2:179566913-179566922 GRCh38: Chr2:178702186-178702195	TTN	T10162fs, T8918fs, T9845fs	Primary dilated cardiomyopathy	Likely pathogenic (Jun 7, 2013)	criteria provided, single submitter
Select item 37476479.	NM_001267550.2(TTN):c.30253C>T (p.Gln10085Ter) GRCh37: Chr2:179567361 GRCh38: Chr2:178702634	TTN	Q10085, Q8841, Q9768*	not provided	Likely pathogenic (Jul 31, 2016)	criteria provided, single submitter
Select item 61918780.	NM_001267550.2(TTN):c.29963-1G>C GRCh37: Chr2:179569135 GRCh38: Chr2:178704408	TTN		Congenital titinopathy, Early-onset myopathy with fatal cardiomyopathy	Pathogenic (Feb 11, 2019)	no assertion criteria provided
Select item 167909581.	NM_001267550.2(TTN):c.29870C>T (p.Thr9957Ile) GRCh37: Chr2:179569329 GRCh38: Chr2:178704602	TTN	T8713I, T9640I, T9957I	Tip-toe gait	Likely pathogenic	no assertion criteria provided
Select item 43740882.	NM_001267550.2(TTN):c.29094_29095del (p.Phe9700fs) GRCh37: Chr2:179571628-179571629 GRCh38: Chr2:178706901-178706902	TTN	F8456fs, F9383fs, F9700fs	Dilated cardiomyopathy 1G	Pathogenic (Nov 21, 2016)	criteria provided, single submitter
Select item 22327083.	NM_001267550.2(TTN):c.29062del (p.Ala9688fs) GRCh37: Chr2:179571661 GRCh38: Chr2:178706934	TTN	A8444fs, A9371fs, A9688fs	Primary dilated cardiomyopathy	Likely pathogenic (Oct 8, 2014)	criteria provided, single submitter
Select item 80091184.	NM_001267550.2(TTN):c.28174+1G>T GRCh37: Chr2:179575788 GRCh38: Chr2:178711061	TTN		Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely pathogenic (Sep 26, 2019)	no assertion criteria provided
Select item 37458685.	NM_001267550.2(TTN):c.28001G>A (p.Trp9334Ter) GRCh37: Chr2:179575962 GRCh38: Chr2:178711235	TTN	W9334, W8090, W9017*	not provided	Likely pathogenic (Dec 1, 2016)	criteria provided, single submitter
Select item 170140186.	NM_001267550.2(TTN):c.26520_26521delinsT (p.Lys8840fs) GRCh37: Chr2:179578864-179578865 GRCh38: Chr2:178714137-178714138	TTN	K7596fs, K8523fs, K8840fs	not provided	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 167810887.	NM_001267550.2(TTN):c.25970del (p.Gly8657fs) GRCh37: Chr2:179579943 GRCh38: Chr2:178715216	TTN	G7413fs, G8340fs, G8657fs	not provided	Likely pathogenic (Sep 20, 2021)	criteria provided, single submitter
Select item 167768088.	NM_001267550.2(TTN):c.25004C>A (p.Ser8335Ter) GRCh37: Chr2:179582729 GRCh38: Chr2:178718002	TTN	S7091, S8018, S8335*	not provided	Likely pathogenic (Jun 22, 2020)	criteria provided, single submitter
Select item 21246389.	NM_001267550.2(TTN):c.23903_23904delinsA (p.Gly7968fs) GRCh37: Chr2:179584315-179584316 GRCh38: Chr2:178719588-178719589	TTN	G7968fs, G7651fs	Myopathy	Pathogenic (Aug 5, 2014)	criteria provided, single submitter
Select item 49330490.	NM_001267550.2(TTN):c.22973C>G (p.Ser7658Ter) GRCh37: Chr2:179585773 GRCh38: Chr2:178721046	TTN	S7658, S6414, S7341*	not provided	Likely pathogenic (Sep 1, 2017)	criteria provided, single submitter
Select item 19114291.	NM_001267550.2(TTN):c.22682A>G (p.Tyr7561Cys) GRCh37: Chr2:179586708 GRCh38: Chr2:178721981	TTN	Y7561C, Y6317C, Y7244C	not provided	Likely pathogenic	no assertion criteria provided
Select item 167810092.	NM_001267550.2(TTN):c.22646C>G (p.Ser7549Ter) GRCh37: Chr2:179586744 GRCh38: Chr2:178722017	TTN	S6305, S7232, S7549*	not provided	Likely pathogenic (Nov 22, 2021)	criteria provided, single submitter
Select item 54647993.	NM_001267550.2(TTN):c.22571_22572del (p.Ile7524fs) GRCh37: Chr2:179586818-179586819 GRCh38: Chr2:178722091-178722092	TTN	I7207fs, I7524fs, I6280fs	not provided	Likely pathogenic (May 18, 2018)	criteria provided, single submitter
Select item 61758294.	NM_001267550.2(TTN):c.22480T>C (p.Ser7494Pro) GRCh37: Chr2:179587034 GRCh38: Chr2:178722307	TTN	S7494P, S7177P, S6250P	Myopathy, myofibrillar, 9, with early respiratory failure	Likely pathogenic (Oct 8, 2018)	criteria provided, single submitter
Select item 152276595.	NM_001267550.2(TTN):c.21961G>A (p.Glu7321Lys) GRCh37: Chr2:179587773 GRCh38: Chr2:178723046	TTN	E7321K, E6077K, E7004K	Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G	Likely pathogenic (Mar 18, 2022)	criteria provided, single submitter
Select item 52342896.	NM_001267550.2(TTN):c.20836+1G>A GRCh37: Chr2:179590094 GRCh38: Chr2:178725367	TTN		Noncompaction cardiomyopathy	Pathogenic (Jan 1, 2017)	criteria provided, single submitter
Select item 97388197.	NM_001267550.2(TTN):c.20449del (p.Ser6817fs) GRCh37: Chr2:179590600 GRCh38: Chr2:178725873	TTN	S5573fs, S6500fs, S6817fs	Autosomal recessive limb-girdle muscular dystrophy type 2J	Likely pathogenic (Feb 18, 2020)	criteria provided, single submitter
Select item 133383698.	NM_001267550.2(TTN):c.20392A>T (p.Lys6798Ter) GRCh37: Chr2:179590657 GRCh38: Chr2:178725930	TTN	K5554, K6481, K6798*	Hypertrophic cardiomyopathy 9	Likely pathogenic (Jul 15, 2019)	criteria provided, single submitter
Select item 87124499.	NM_001267550.2(TTN):c.19203del (p.Pro6401_Met6402insTer) GRCh37: Chr2:179593450 GRCh38: Chr2:178728723	TTN		not provided	Pathogenic (Jan 1, 2019)	criteria provided, single submitter
Select item 801834100.	NM_001267550.2(TTN):c.19156C>T (p.Gln6386Ter) GRCh37: Chr2:179593497 GRCh38: Chr2:178728770	TTN	Q5142, Q6069, Q6386*	Dilated cardiomyopathy 1G	Pathogenic (May 28, 2019)	criteria provided, single submitter

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